List of variants in gene GJB1 reported as likely pathogenic for Charcot-Marie-Tooth disease

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Gene type:		Distinguish antisense genes from sense genes
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Total variants: 13

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HGVS	dbSNP
NM_000166.6(GJB1):c.-16-2A>G	rs751230398
NM_000166.6(GJB1):c.109G>C (p.Val37Leu)
NM_000166.6(GJB1):c.118G>T (p.Ala40Ser)	rs1602348782
NM_000166.6(GJB1):c.14G>T (p.Gly5Val)	rs1064793139
NM_000166.6(GJB1):c.425G>A (p.Arg142Gln)	rs786204123
NM_000166.6(GJB1):c.467T>A (p.Leu156His)
NM_000166.6(GJB1):c.50C>G (p.Ser17Cys)	rs1555937009
NM_000166.6(GJB1):c.538T>C (p.Phe180Leu)	rs1602349603
NM_000166.6(GJB1):c.547C>T (p.Arg183Cys)	rs863224471
NM_000166.6(GJB1):c.65G>A (p.Arg22Gln)	rs1060501002
NM_000166.6(GJB1):c.72G>C (p.Trp24Cys)
NM_000166.6(GJB1):c.73C>T (p.Leu25Phe)	rs1602348662
NM_000166.6(GJB1):c.83T>A (p.Ile28Asn)	rs768834663

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